Frykman Hans, Kumar Pankaj, Oger Joel
Department of Medicine, University of British Columbia, Vancouver, BC, Canada.
BC Neuroimmunology Lab, University of British Columbia, Vancouver, BC, Canada.
Front Neurol. 2020 Dec 9;11:596621. doi: 10.3389/fneur.2020.596621. eCollection 2020.
Myasthenia gravis (MG) is a heterogeneous condition, characterized by autoantibodies (Abs) that target functionally important structures within neuromuscular junctions (NMJ), thus affecting nerve-to-muscle transmission. MG patients are more often now subgrouped based on the profile of serum autoantibodies, which segregate with clinical presentation, immunopathology, and their response to therapies. The serological testing plays an essential role in confirming MG diagnosis and guiding disease management, although a small percentage of MG patients remain negative for antibodies. With the advancements in new highly effective pathophysiologically-specific immunotherapeutic options, it has become increasingly important to identify the specific Abs responsible for the pathogenicity in individual MG patients. There are several new assays and protocols being developed for the improved detection of Abs in MG patients. This review focuses on the divergent immunopathological mechanisms in MG, and discusses their relevance to improved diagnostic and treatment. We propose a comprehensive "reflex testing," algorithm for the presence of MG autoantibodies, and foresee that in the near future, the convenience and specificity of novel assays will permit the clinicians to consider them into routine systematic testing, thus stimulating laboratories to make these tests available. Moreover, adopting treatment driven testing algorithms will be crucial to identify subgroups of patients potentially benefiting from novel immunotherapies for MG.
重症肌无力(MG)是一种异质性疾病,其特征是自身抗体(Abs)靶向神经肌肉接头(NMJ)内功能重要的结构,从而影响神经到肌肉的传递。现在,MG患者更常根据血清自身抗体谱进行亚组划分,血清自身抗体谱与临床表现、免疫病理学及其对治疗的反应相关。血清学检测在确诊MG和指导疾病管理方面起着至关重要的作用,尽管一小部分MG患者的抗体检测仍为阴性。随着新型高效的病理生理学特异性免疫治疗方案的进展,识别个别MG患者中导致致病性的特定抗体变得越来越重要。目前正在开发几种新的检测方法和方案,以改进对MG患者抗体的检测。本综述重点关注MG中不同的免疫病理机制,并讨论它们与改进诊断和治疗的相关性。我们提出了一种针对MG自身抗体存在情况的全面“反射检测”算法,并预计在不久的将来,新型检测方法的便利性和特异性将使临床医生能够将其纳入常规系统检测,从而促使实验室提供这些检测。此外,采用治疗驱动的检测算法对于识别可能从MG新型免疫疗法中获益的患者亚组至关重要。